Varaico: Literature-Extracted Genetic Variants

Gene:GUCA1A
Variant:p.D72G

GUCA1A

218 papers

RefSeq Summary

This gene encodes an enzyme that plays a role in the recovery of retinal photoreceptors from photobleaching. This enzyme promotes the activity of retinal guanylyl cyclase-1 (GC1) at low calcium concen...

Pfam Domains

EF-hand_1aa 55–83UCSCEF hand domain
EF-hand_7aa 89–161UCSCEF-hand domain pair

Gene Aliases

HGNC Name

guanylate cyclase activator 1A

HGNC Previous Symbols

GUCA1; C6orf131

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001384910.1
p.D72G
c.215A>G
Surrounding Variants
1 paper
NM_001384910.1
p.I71T
c.212T>C
1 paper
NM_001384910.1
p.M74K
c.221T>A
1 paper
NM_001384910.1
p.E75Q
c.223G>C
3 papers
NM_001384910.1
p.E75D
c.225G>C
3 papers
NM_001384910.1
p.E75D
c.225G>T
1 paper
NM_001384910.1
p.G69C
c.205G>T
1 paper
NM_001384910.1
p.D68E
c.204C>A
1 paper
NM_001384910.1
p.D68E
c.204C>G
11 papers
NM_001384910.1
p.V77E
c.230T>A
1 paper
NM_001384910.1
p.A78E
c.233C>A
1 paper
NM_001384910.1
p.A79fs
c.235_236fs
1 paper
NM_001384910.1
p.L80I
c.238C>A
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."